LOCUS AF245517 3137 bp mRNA linear HUM 08-SEP-2000
DEFINITION Homo sapiens vacuolar proton pump 116 kDa accessory subunit
(ATP6N1B) mRNA, complete cds, alternatively spliced.
ACCESSION AF245517
VERSION AF245517.1
KEYWORDS .
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 3137)
AUTHORS Smith,A.N., Skaug,J., Choate,K.A., Nayir,A., Bakkaloglu,A.,
Ozen,S., Hulton,S.A., Sanjad,S.A., Al-Sabban,E.A., Lifton,R.P.,
Scherer,S.W. and Karet,F.E.
TITLE Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump
116-kD subunit, cause recessive distal renal tubular acidosis with
preserved hearing
JOURNAL Nat. Genet. 26 (1), 71-75 (2000)
PUBMED 10973252
REFERENCE 2 (bases 1 to 3137)
AUTHORS Smith,A.N. and Karet,F.E.
TITLE Direct Submission
JOURNAL Submitted (15-MAR-2000) Medical Genetics, University of Cambridge,
Wellcome Trust Center, Addenbrooke's Hospital, Cambridge CB2 2XY,
UK
FEATURES Location/Qualifiers
source 1..3137
/db_xref="H-InvDB:HIT000074923"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="7"
/map="between D7S495 and D7S2505"
/tissue_type="kidney"
gene 1..3137
/gene="ATP6N1B"
CDS 269..2791
/gene="ATP6N1B"
/note="ATPase; lacks exon 3; translation start in exon 4;
alternatively spliced"
/codon_start=1
/product="vacuolar proton pump 116 kDa accessory subunit"
/protein_id="AAG11415.1"
/translation="MASVFRSEEMCLSQLFLQVEAAYCCVAELGELGLVQFKDLNMNV
NSFQRKFVNEVRRCESLERILRFLEDEMQNEIVVQLLEKSPLTPLPREMITLETVLEK
LEGELQEANQNQQALKQSFLELTELKYLLKKTQDFFETETNLADDFFTEDTSGLLELK
AVPAYMTGKLGFIAGVINRERMASFERLLWRICRGNVYLKFSEMDAPLEDPVTKEEIQ
KNIFIIFYQGEQLRQKIKKICDGFRATVYPCPEPAVERREMLESVNVRLEDLITVITQ
TESHRQRLLQEAAANWHSWLIKVQKMKAVYHILNMCNIDVTQQCVIAEIWFPVADATR
IKRALEQGMELSGSSMAPIMTTVQSKTAPPTFNRTNKFTAGFQNIVDAYGVGSYREIN
PAPYTIITFPFLFAVMFGDCGHGTVMLLAALWMILNERRLLSQKTDNEIWNTFFHGRY
LILLMGIFSIYTGLIYNDCFSKSLNIFGSSWSVQPMFRNGTWNTHVMEESLYLQLDPA
IPGVYFGNPYPFGIDPIWNLASNKLTFLNSYKMKMSVILGIVQMVFGVILSLFNHIYF
RRTLNIILQFIPEMIFILCLFGYLVFMIIFKWCCFDVHVSQHAPSILIHFINMFLFNY
SDSSNAPLYKHQQEVQSFFVVMALISVPWMLLIKPFILRASHRKSQLQASRIQEDATE
NIEGDSSSPSSRSGQRTSADTHGALDDHGEEFNFGDVFVHQAIHTIEYCLGCISNTAS
YLRLWALSLAHAQLSEVLWTMVMNSGLQTRGWGGIVGVFIIFAVFAVLTVAILLIMEG
LSAFLHALRLHWVEFQNKFYVGDGYKFSPFSFKHILDGTAEE"
BASE COUNT 817 a 736 c 788 g 796 t
ORIGIN
1 gagcaagccg agtggaggga ggcaaaggcc aggctgagga tcagggtggc ccgggtggca
61 gcggggaggc gctgcatgct ggaggctgtg ctgagtgccc ggtgcaggtg agccggtcct
121 gcggagttgt gccgagtgcc tgctgcagtc tcatttccag ttcctccatg acgtggcaag
181 tgaagacagg aatgaaagga atgtaaagca gcttttctct gaagagaaga agagagagag
241 acacagccaa gaccgaggct gggccaagat ggcgtctgtg tttcgaagcg aggagatgtg
301 tttgtcacaa ctgtttctcc aggtggaagc tgcatattgc tgtgtggctg agctcggaga
361 gctcggattg gttcagttca aagatttaaa tatgaatgtg aacagctttc aaaggaaatt
421 tgtgaatgaa gtcagaaggt gtgaatcact ggagagaatc ctccgttttc tggaagacga
481 gatgcaaaat gagattgtag ttcagttgct cgagaaaagc ccactgaccc cgctcccacg
541 ggaaatgatt accctggaga ctgttctaga aaaactggaa ggagagttac aggaagccaa
601 ccagaaccag caggccttga aacaaagctt cctagaactg acagaactga aatacctcct
661 gaagaaaacc caagacttct ttgagacgga aaccaattta gctgatgatt tctttactga
721 ggacacttct ggcctcctgg agttgaaagc agtgcctgca tatatgaccg gaaagttggg
781 gttcatagcc ggtgtgatca acagggagag gatggcttcc tttgagcggt tactgtggcg
841 aatctgccga ggaaacgtgt acttgaagtt cagtgagatg gacgcccctc tggaggatcc
901 tgtgacgaaa gaagaaattc agaagaacat attcatcata ttttaccaag gagagcagct
961 caggcagaaa atcaagaaga tctgtgatgg gtttcgagcc actgtctacc cttgcccaga
1021 gcctgcggtg gagcgcagag agatgttgga gagcgtcaat gtgaggctgg aagatttaat
1081 caccgtcata acacaaacag agtctcaccg ccagcgcctg ctgcaggaag ccgctgccaa
1141 ctggcactcc tggctcatca aggtgcagaa gatgaaagct gtctaccaca tcctgaacat
1201 gtgcaacatc gacgtcaccc agcagtgtgt catcgccgag atctggttcc cggtggcaga
1261 tgccacacgt atcaagaggg cactggagca aggcatggaa ctaagtggct cctccatggc
1321 ccccatcatg accacagtgc aatctaaaac agcccctccc acatttaaca ggaccaataa
1381 attcacagct ggcttccaga atattgttga tgcctatggt gtcggcagct accgggagat
1441 aaacccagcc ccctacacca tcatcacttt ccccttcctg ttcgctgtga tgtttggaga
1501 ctgtggtcat ggaaccgtga tgctcctggc tgcactttgg atgattctga atgagagacg
1561 cttgctctcc cagaagacag acaatgagat ttggaacacc ttcttccacg ggcgctatct
1621 gatcctactt atgggcatct tctccatcta cacgggtttg atctacaatg actgcttctc
1681 caagtccttg aacatctttg gctcttcttg gagtgtccaa cccatgttca gaaacggcac
1741 atggaatact catgtaatgg aggaaagtct atatctgcag ctggacccag ccataccagg
1801 agtgtatttt ggaaatccat acccgtttgg gattgatccg atttggaact tggcttcaaa
1861 caaactcaca tttctgaact cgtataaaat gaagatgtcg gtgatcctgg gaattgtcca
1921 gatggttttt ggtgtcatcc tcagcctttt caatcacata tacttcagaa gaactctcaa
1981 catcattctg caatttatcc ctgagatgat ttttatcctg tgtctgtttg gatacctggt
2041 tttcatgatc attttcaaat ggtgctgctt tgacgtccac gtatctcagc acgcccccag
2101 catcctcatc cacttcatca acatgtttct gtttaactac agtgactctt ccaacgcacc
2161 cctctacaaa catcagcaag aagtccaaag tttctttgtg gttatggctt tgatttctgt
2221 gccgtggatg cttctgatta agccgtttat tcttagagcc agtcatcgga aatcccagct
2281 gcaggcatcc aggatccaag aagatgccac tgagaacatt gaaggtgata gctccagccc
2341 ttctagccgt tctggccaga ggacttctgc agatacccac ggggctctgg acgaccatgg
2401 agaagagttc aactttggag acgtctttgt ccaccaagcc atccacacca tcgagtactg
2461 cctgggctgc atttcaaaca cagcctccta cctgcggctc tgggccctca gcctggctca
2521 tgcacaactg tctgaagtgc tctggactat ggtgatgaac agcggccttc agacgcgagg
2581 ctggggagga atcgtcgggg tttttattat ttttgccgta tttgctgtcc tgacagtagc
2641 catccttctg atcatggagg gcctctctgc tttcctgcac gccctgcgac tgcactgggt
2701 tgagttccag aacaagttct atgtcgggga tggttacaag ttttctccat tctcctttaa
2761 acacatcctg gatggcacag ccgaggagta ggctgagggc tgcacctccc acggtggtca
2821 ccatgccaat gaaggaagtt cagtcttgtc tttgatatca gcccctgcaa ggcgctcaat
2881 gggaaggttg ttcttggctc acctgaagca tgaaactgtg tattatttgg acgtcagcct
2941 gtggatttga tacgacttaa ccacgtcaga ggaaggactt tggcaagtga tattgtcttc
3001 atgtggggta ttaattctca aataataaag taattgacaa atgaggggag aatgctaaac
3061 agatgtcttc ttgcaatatt ttaaatattg tatttgagaa aataaacatc tgagtcattc
3121 aaaaaaaaaa aaaaaaa
//